March 8, 2010 - You are not alone

So my internet research was moving right along prior to Mom's March 9 appointment with her oncologist, and I was starting to find other people online with amyloidosis. Through the amyloidosis foundation web site I found the amyloid listserv and subscribed to it:

http://listserv.acor.org/SCRIPTS/WA-ACOR.EXE?A0=AMYLOID

But the real find was on March 2, 2010 when I discovered the existence of support groups around the country, AND they have one that meets in Dallas, AND the next meeting is March 13. It's hard to believe in retrospect that it took me a month to find that, but thank goodness I did. At the time I felt like the luckiest boy in the world:

So I sent some emails to the two RSVP addresses to confirm the March 13 meeting was on, telling them my mother and I would like to attend since she was recently diagnosed. One of the local organizers recommended I inform the President of the Amyloidosis Support Groups, Muriel Finkel, that I was planning on attending. So on March 8, 2010, I sent my first email to Muriel Finkel. She wrote me back within 20 minutes and recommended I also join the online support group in Yahoo groups. Later that day I joined the online group. When a new member joins, an email is sent to the group with the following subject line:

Welcome New Member - You Are Not Alone

When you find out you have a rare disease, especially one you've never even heard of before, it is a good feeling when you realize you are not alone. I guess there had been a lot of new members joining the group lately, because Muriel replied to my New Member message with this:

So many newbie's......make sure you get a second opinion at a center of excellence and experience...on the website www.amyloidosissupport.com <http://www.amyloidosissupport.com/> under medical links....your local docs can work with these experienced doctors and learn and all will be the better for it........be sure and watch the animation on the top right of the website under the map/flag and read all of the information on all of the pages........you will be tested:-)

Take note of the phrase, "a second opinion at a center of excellence and experience." It will come up again.

So it's March 8, 2010, the day before I go with Mom to her first appointment with her oncologist since the diagnosis of amyloidosis. I have found an online support group and I'm planning on attending a local support group meeting four days after that. Things are moving along at a good pace, so maybe will start getting some answers and have a better idea of what's going to happen next. Maybe, maybe not.

February 2010 - What to do, where to go?

Mom's next doctor appointment regarding amyloidosis would be with the oncologist/hematologist who treated her when she had breast cancer about 10 years ago. Supposedly this doctor (Dr. C) had treated amyloidosis patients in his practice, so we felt good about going to see him. She scheduled an appointment for March 9, 2010, so I had plenty of time to search the internet to see what I could find out regarding types of amyloidosis, causes, symptoms, treatments, etc. Here are the main things I think I knew about amyloidosis as of February of 2010:

• AL (primary) amyloidosis is by far the most commonly diagnosed form of amyloidosis. The cause of AL amyloidosis is unknown.
• Treatments for AL amyloidosis include a stem cell transplant or chemotherapy.
• AA amyloidosis is secondary to some other condition or disease in the body.
• Localized amyloidosis means it is localized to a specific part of the body. Again, cause unknown.
• Familial amyloidosis is a hereditary form of amyloidosis. There was no mention of familial amyloidosis in the biopsy report, so no need to worry about that.

It became quite clear that it could be difficult to find a doctor with any experience with amyloidosis, much less someone who could be considered a specialist. Eventually I found two very important web sites. They were the Amyloidosis Foundation at: 

http://www.amyloidosis.org/index.html

and Amyloidosis Support Groups at:

http://www.amyloidosissupport.com/

I started reading through the patient stories on both of these web sites, and lo and behold there was a story by a woman (GL) in the DFW area, who mentioned a doctor at Baylor Hospital that had treated her husband. I wrote to her, told her my mom had recently been diagnosed, and thanked her for giving us some hope that we might be able to find someone in this area with amyloidosis experience. She did write back and tell me she would definitely recommend Dr. B at Baylor. Sadly her husband had passed away suddenly in May of 2009 due to a rare side effect of amyloidosis, but he had lived a normal life with amyloidosis for 8 years.

So the input rate of information about amyloidosis is starting to pick up as we head into March, and I'm starting to make contact with others who are dealing with the same thing. Hold on tight . . .

January 2010 - Kidney Biopsy Results

Here is my mother's eagerly anticipated kidney biopsy report, medical-speak and all, followed by some commentary by yours truly.

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Patient: LJ

Age: 68

Date collected: 12-28-09

Specimen submitted: Kidney, biopsy

DIAGNOSIS:

Amyloidosis (see Comment).

Interstitial Fibrosis, Moderate

Arteriosclerosis, Moderate

Comment: There is Lambda greater than Kappa staining but not significant enough to definitively state that this is AL Amyloidosis. The section stained for AA Amyloid is negative.

Clinical History:

This 68 year-old female has proteinuria.

Gross Description:

Received from Medical Center of Plano, Plano, TX, their number S09-5892, are two specimen bottles, one contains Formalin and the other Michel's fixative, labeled with the patient's name, LJ.

Received in Formalin are two pieces of tissue measuring 1.4 x 0.1 x 0.1 and 0.1 x 0.1 x 0.1 cm. Two ends are submitted for electron microscopy and the remainder of the tissue is submitted in its entirety for light microscopy.

Received in Michel's fixative are three pieces of tissue measuring 1.3 x 0.1 x 0.1 cm (bloody), 0.4 x 0.1 x 0.1 cm (bloody) and 0.3 x 0.1 x 0.1 cm. The specimen is submitted in its entirety for immunofluorescence microscopy.

Microscopic Description:

LIGHT MICROSCOPY:
Sections of kidney show 28 glomeruli, none of which are globally sclerotic. There is diffuse replacement of the uretal architecture by expansive hyaline masses involving the mesangial region and extending into capillary loops. This is silver negative on Jones Silver stain. No hypercellularity is seen.

There is moderate tubular atrophy and dropout with interstitial fibrosis associated with mild chronic inflammation. The blood vessels show moderate intimal fibrosis. There is focal hyaline infiltration similar to the material seen in the glomeruli. Toluidine Blue stained sections show 12 glomeruli, one of which is globally sclerotic. There is diffuse toluidine blue positive material replacing the usual architecture in masses of mesangial expansion. Moderate interstitial fibrosis is seen. Congo Red and Thioflavin T stains for amyloid are positive.

IMMUNOFLUORESCENCE:
Twenty-two glomeruli are available for examination, none of which are globally sclerotic. The sections are stained for IgG, IgM, IgA, C3, C4, C1q, Albumin, Fibrinogen, Kappa and Lambda light chains. Two plus amounts of Lambada (sic) light chain and one plus amounts of Kappa light chain are seen in a hazy pattern over all glomeruli. The remaining stains are essentially negative.

ELECTRON MICROSCOPY:
Two blocks and multiple Toluidine Blue stained sections are prepared. One glomerulus is examined ultrastructurally. Glomerular sections show marked mesangial matrix expansion by crossshatched fibrilla material having size characteristics of amyloid. Frequently this material extends out into the subendothelial space. Extensive effacement of foot processes is present. The capillary loops are of the usual thickness and do not contain electron dense deposits.


And then there are three black and white pictures of biopsy slides, I assume. The word "Amyloid" is in the middle of the three pictures, with a line going to each picture. There is a fourth picture with the caption "Normal glomerulus for Comparison." One of the biopsy photos is the closest match to the "normal" photo, and the biopsy photo has significantly more white spots than the normal one. I'm guessing the white stuff is the amyloid.
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I think I only understand slightly more about this report than I understood back when I first looked at it in January of 2010. Later on I would learn more about Lambda and Kappa chains, and Congo Red staining. At the time, of course, we focused on "Diagnosis: Amyloidosis" and this very important sentence:

"There is Lambda greater than Kappa staining but not significant enough to definitively state that this is AL Amyloidosis."

So based on this report, they're saying she has amyloidosis but they can't definitively say it's AL Amyloidosis. So our journey begins as we try to determine what she really has, and what should we do about it.